C9orf72 ALS study finds little difference in cognition or behaviour, except visuospatial skills
Original source
Cognitive and behavioral manifestations of the C9orf72 mutation in Amyotrophic Lateral Sclerosis: an age, education, and gender-matched cohort study. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Population inferred from the title and abstract by Compass.
Related topics
In a matched study of 104 people with ALS, those with a C9orf72 repeat expansion had similar cognitive and behavioural scores to those without the expansion. The exception was greater difficulty with visuospatial skills among expansion carriers. The groups were matched for age, education and gender.
Why this matters
The findings suggest that carrying a C9orf72 repeat expansion did not, by itself, predict substantial cognitive or behavioural impairment early in ALS when these factors were considered. The results may help guide understanding of how the expansion relates to thinking and behaviour, but they do not change treatment or establish what will happen to any individual.
Limitations and context
This was a relatively small cohort drawn from the Irish ALS register, with 52 expansion carriers and 52 controls. Participants with previous clinically significant comorbidities were excluded, which may limit how broadly the findings apply. The study assessed participants at a particular stage rather than establishing long-term outcomes.